A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18604



Internal ID15828259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46378841..46379267hg38UCSC Ensembl
Outerchr10:46378637..46379475hg38UCSC Ensembl
Innerchr10:47750101..47750527hg19UCSC Ensembl
Outerchr10:47749897..47750735hg19UCSC Ensembl
Innerchr10:47220107..47220533hg18UCSC Ensembl
Outerchr10:47219903..47220741hg18UCSC Ensembl
Innerchr10:47220107..47220533hg17UCSC Ensembl
Outerchr10:47219903..47220741hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38839
hg19839
hg18839
hg17839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA10839
Known GenesANXA8L1, ANXA8L2
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv18604
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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